Isovaleric acidemia is an inborn error in metabolism due to a defect in isovaleryl-CoA dehydrogenase. Accumulation of serum isovaleric acid causes poor feeding, vomiting, lethargy, hypothermia, convulsion, mental retardation, etc. It is inherited as an autosomal recessive trait. Since the first reports of isovaleric acidemia by Tanaka et al in 1966, more than 60 cases have been reported. There are two clinically different presentations of isovaleric acidemia, with about half the patients presenting with an acute severe neonatal form and about half with a chronic intermittent forrn. The difference in clinical presentation may not be a consequence of differing severities of the causative mutation, but a result of the timing of application of catabolic stress or the ability to form isovalerylglycine. We described here clinical and organic acid analytical findings of brothers with chronic intermittent form of isovaleric acidemia. (J Korean Pediatr Soc 2000;43:828-831)
Humans ; Hypothermia ; Intellectual Disability ; Isovaleryl-CoA Dehydrogenase ; Lethargy ; Metabolism ; Seizures ; Siblings* ; Vomiting

No abstract available.
Peer Review*

We report a typical case of Hunters syndrr me in a 9 year old boy, who presented with firm skin colored nodules that coalesce to form a reticular pattern on a symmetrical rea between the angles of the scapulas, which is regarded as the pathognornonic cutaneous rnarker, for Hunters syndrome. He also showed growth retardation, clear corneas, hepatomegaly, attertich deficit and mild mental deterioration. The skin biopsy specimen taken frorn a typical nodule shows loosely arranged collagen fibers with massive mucinous material which stains positively with aliar blue at both pH 2.5 and 0.5, metachromatic granules within fibroblast stained with toluidine blue.
Biopsy ; Child ; Collagen ; Coloring Agents ; Cornea ; Fibroblasts ; Hepatomegaly ; Humans ; Hydrogen-Ion Concentration ; Male ; Mucins ; Mucopolysaccharidosis II* ; Scapula ; Skin* ; Tolonium Chloride

The author analysed CT findings and long-term outcomes of 67 patients with acute carbon monoxide poisoning. Low density lesions were demonstrated in 44 patients (65.7%). Hemorrhage and calcification also showed with low density lesions in 3 and 2 patients, respectively. The most common findings, seen in 22 patients, was bilaterally symmetrical round low density lesion in the globus pallidus and adjacent area of internal capsule with variable sizes. In 18 patients there were diffuse symmetrical low density lesion in the cerebral white matter, especially around the centrum semiovale, with slight or marked extension. Of 44 patients with CT abnormalities seven patients recovered without disability, fifteen recovered with some disability, eighteen remained in the vegetative state, and four died. The outcome of acute carbon monoxide poisoning depended on the severity of the cerebral white matter change in CT of brain. The size of the bilateral globus pallidus lesion was not heopful to determine the longterm outcome of acute carbon monoxide poisoning.
Brain* ; Carbon Monoxide Poisoning* ; Carbon Monoxide* ; Carbon* ; Globus Pallidus ; Hemorrhage ; Humans ; Internal Capsule ; Persistent Vegetative State

BACKGROUND: Trichloroacetic acid chemexfoliation has gained popularity and is widely used cosmetically. The depth of the wound caused by the various dilutions of TCA is paramount to the therapeutic efficacy. Therfore rational use of TCA chemexfoliation requires a clear understanding of the expected depth of destruction caused by a given dilution. OBJECTIVE: The purpose of this stuely is to quantitate the wound deptlw produced by varying concentrations of TCA. We have stirdied takie effects of consecutive applications, occlusion and tretinoin pretreatment on wound depth in TCA clinimical peeling. METHODS: Various concentrations of TCA and distilled water were aplied to two pairs of test sites of a guinea pigs back in a uniform fashion with cotton-tip applicators and then we have measured the mean depth of epidermal necrtsis mieroscopically by using Visual Imagc Data Analysis System. RESULTS: 1. Depths of wounds createdly threre consecutive applications of 20, 35% and 50% TCA were deeper than those of wounds by a single application of TCA. 2. Depths of wounds created by application of TCA with the occlusive method were deeper than those of the open method. Therefore the effect of occlusion is to enhance the penetration of TCA. 3. Depths of wounds pretreatwi with 0.05 % tretinoin daily for 7 days are deeper than those of the control in 50% TCA chemical peeling. Therefore the effect of 0.05% retinoin pretreatment is to enhance the penetration of TCA. CONCLUSION: This study showed that consecutive applications, oeclusion and tretinoin pretreatment in TCA chemexfoliation enhance the peietration of TCA.
Animals ; Chemexfoliation* ; Guinea Pigs ; Statistics as Topic ; Tretinoin ; Trichloroacetic Acid* ; Water ; Wounds and Injuries

No abstract available.
Biopsy* ; Prostate*

BACKGROUND & PURPOSE: Of thalamic stroke syndrome, according to previous reports, the syndrome of hemiataxia and hemisensory loss (thalamic ataxia syndrome) is known to have localizing value confined to the lesion of posterolateral thalamus. And ataxia in thalamic ataxia syndrome is due to interruption of cerebellar outflow pathways. We observed the clinical characteristics of cerebellar manifestations in patients with thalamic ataxia syndrome to clarify intrathalamic cerebellar pathways because it is known that parts of cerebellar efferent fibers do not pass through the thalamus. METHODS: Ten patients with ataxia (5 men, 5 women ; mean age 64), out of 47 thalamic stroke patients admitted to Kyung Hee University Hospital from Jan. 1994 to May. 1995, were selected. The localization of the lesion was based on CT or MR imaging and ataxia was characterized in view of cerebellar functions - coordination of movement, regulation of equilibrium and muscle tone. RESULTS: Out of 10 patients, 4 patients were thalamic hematoma, 4 patients thalamic hematoma with intraventricular hemorrhage, 2 patients thalamic infarction. Four patients were hemiataxia-hemiparesis-hemisensory loss, 4 patients hemiataxia-hemisensory loss, 2 patients hemiataxia-hemiparesis. Posterolateral thalamus was involved in 4 patients, dorsal thalamus in 3 patients, posterolateral and dorsal thalamus in 3 patients. All patients had dysmetria, dysdiadochokinesia, kinetic tremor. Two patient has gait ataxia. Speech and ocular motility disturbances were not noted. CONCLUSION: Thalamic ataxia syndrome appeared in the lesion of posterolateral and dorsal thalamus. Common cerebellar manifestations symptoms of incoordination.
Ataxia* ; Cerebellar Ataxia ; Female ; Gait Ataxia ; Hematoma ; Hemorrhage ; Humans ; Infarction ; Magnetic Resonance Imaging ; Male ; Stroke* ; Thalamus ; Tremor

No abstract available.

Patients with migraine frequently have hypersensitivity to light, sound, and smell. In addition to these hallmark features of migraine, patients often describe vestibular complaints ranging from true vertigo to less specific symptoms of dizziness, unsteadiness, and head motion intolerance. Over the last two decades a number of studies have stressed the association of migraine with vestibular and ocular motor disorders. Migraine may be a most common cause of various forms of episodic vertigo, but definite diagnostic criteria for migraine related vertigo are still lacking. As migrainous vertigo is an evolving entity, terminology is confusing and generally accepted diagnostic criteria are not established. The interrelations of migraine and dizziness can be classified into seven categories: (1) vertigo as an aura of migraine-basilar type migraine, (2) episodic vertigo attack without typical temporal relationship to migraine headache-migraine equivalent, (3) vertigo/dizziness during migraine attack, (4) susceptibility of motion sickness in migraine patients, (5) CACNA1A gene mutation and migraine-familial hemiplegic migraine, episodic ataxia type 2, (6) well defined vertigo syndromes that are not caused by migraine but show a statistical association with migraine-Meniere's disease, BPPV, (7) non-vestibular dizziness in migraine patients-psychiatric comorbidity, antimigraine medication. Each part of categories will be discussed.
Ataxia ; Comorbidity ; Dizziness ; Epilepsy ; Head ; Humans ; Hypersensitivity ; Light ; Migraine Disorders ; Motion Sickness ; Nystagmus, Pathologic ; Smell ; Vertigo

Quantitative serial measurements of Alpha-fetoprotein (a-FP) and Beta-human chorionic gonadotropin (B-HCG) using radioimmunoassay were performed in a patient with recurrent non-germinomatous germ cell tumor (NGGCT) into CNS during radiotherapy and chemotherapy. When the pineal tumor was initially presented, elevated levels of serum a-FP and B-HCG fell dramatically to normal rage after the completion of cranial irradiation (5,060cGy). Three months later, the patient had a rise in serum and CSF tumor markers coincident with recurrence of tumor into lumbal spinal canal. Serum levels were not changed despite of 15 days of whole spine irradiation (2,000cGy) although decreased remarkably 1 month after the completion of radiotherapy (4,230cGy). At the time of relapse in the suprasella area and the cerebellopontine angle, serum and CSF levels rised again. As a result of two courses of chemotherapy the tumor markers fell markedly, but the tumor was spread to other sites into CNS. We conclude serial measurements of a-FP and B-HCG are useful for the diagnosis of the non-germinomatous germ cell tumor into CNS and for monitoring disease activity.
alpha-Fetoproteins ; Cerebellopontine Angle ; Chorionic Gonadotropin ; Cranial Irradiation ; Diagnosis ; Drug Therapy ; Germ Cells* ; Humans ; Neoplasms, Germ Cell and Embryonal* ; Pinealoma ; Radioimmunoassay ; Radiotherapy ; Rage ; Recurrence ; Spinal Canal ; Spine ; Biomarkers, Tumor*